228520.2

Country

Oman

HPO Terms

Wide anterior fontanel; Proptosis; Midface retrusion; Depressed nasal ridge; Narrow mouth; Cleft palate; Short neck; Limb undergrowth; Limb joint contracture; Myopia; Severe sensorineural hearing impairment; Kyphosis; Cataract; Cupped ribs; Platyspondyly; Pear-shaped vertebrae; Hypoplastic ilia; Narrow greater sciatic notch; Dumbbell-shaped long bone; Metaphyseal irregularity; Global developmental delay; Pectus carinatum
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001854.3:c.4084C>T2NA

Remarks

Patient II.1 from family 'FA' in the publication
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